Mutations or dysregulation of the RUNX2 gene can lead to various skeletal disorders. One notable condition is cleidocranial dysplasia (CCD), a genetic disorder characterized by defective bone development, particularly affecting the clavicles and skull. Patients with CCD often exhibit delayed closure of cranial sutures, dental abnormalities, and short stature. RUNX2 mutations have also been implicated in other bone-related diseases and cancers.
